Results 61 to 70 of about 1,951 (186)

NOGOB receptor deficiency increases cerebrovascular permeability and hemorrhage via impairing histone acetylation–mediated CCM1/2 expression

The Journal of Clinical Investigation, 2022
The loss function of cerebral cavernous malformation (CCM) genes leads to most CCM lesions characterized by enlarged leaking vascular lesions in the brain.
Zhi Fang, Xiaoran Sun, Xiang Wang, Ji Ma, Thomas Palaia, Ujala Rana, Benjamin Miao, Louis Ragolia, Wenquan Hu, Qing Robert Miao   +9 more
doaj   +1 more source

The effect of different hydration media on magnesia

Discover Materials, 2021
This paper discusses the rate of hydration of magnesia (CCM1 and CCM2) during the formation of magnesium hydroxide with magnesium acetate and distilled water.
Friedrich von Hoessle, Reham Farid, Mayar Mohamed, Rawia M. Hammouda, Fritz E. Kühn, Ghada Bassioni   +5 more
doaj   +1 more source

Molecular Diagnosis in a Specialised Neurogenetic Clinic With Access to Whole‐Genome Sequencing

Acta Neurologica Scandinavica, Volume 2026, Issue 1, 2026.
Background Rare diseases, collectively affecting 1 in 17 people in the United Kingdom and Ireland, require coordinated care. Specialised multidisciplinary clinics offer a streamlined approach for diagnosis and management of rare neurogenetic disorders.
Patrick B. Moloney, Nicholas W. Wood, Rob Rouhl   +2 more
wiley   +1 more source

The CCM1–CCM2 complex controls complementary functions of ROCK1 and ROCK2 that are required for endothelial integrity [PDF]

Journal of Cell Science, 2018
ABSTRACT Endothelial integrity relies on a mechanical crosstalk between intercellular and cell–matrix interactions. This crosstalk is compromised in hemorrhagic vascular lesions of patients carrying loss-of-function mutations in cerebral cavernous malformation (CCM) genes.
Lisowska, Justyna, Rödel, Claudia, Manet, Sandra, Miroshnikova, Yekaterina, Boyault, Cyril, Planus, Emmanuelle, de Mets, Richard, Lee, Hsiao-Hui, Destaing, Olivier, Mertani, Hichem, Boulday, Gweńola, Tournier-Lasserve, Elisabeth, Balland, Martial, Abdelilah-Seyfried, Salim, Albiges-Rizo, Corinne, Faurobert, Eva   +15 more
openaire   +4 more sources

Data_Sheet_1_Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations.PDF

, 2019
Autosomal dominant cerebral cavernous malformation (CCM) represents a genetic disorder with a high mutation detection rate given that stringent inclusion criteria are used and copy number variation analyses are part of the diagnostic workflow. Pathogenic
Christiane D. Much (7889807), Matthias Rath (415764), Felix von Podewils (5467004), Agnes Flöel (2657026), Stefanie Spiegler (7889816), Konrad Schwefel (6908636), Miriam Elbracht (3570134), Ingo Kurth (499801), Dariush Skowronek (7889810), Loay Shoubash (7889813), Henry W. S. Schroeder (7889819), Ute Felbor (2742199)   +11 more
core   +1 more source

Multiple Genomic Technologies Validate Rare Novel Variant and Direct Medical Care in Vascular Anomalies

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Some vascular anomalies, such as hamartomas associated with PTEN hamartoma tumor syndrome (PHTS) and fibroadipose vascular anomaly (FAVA, often due to PI3KCA variants), share similar clinical, radiological, and histopathological presentations that challenge clinicians to provide an accurate diagnosis.
Luciana Daniela Garlisi Torales, Kristina Woodis, Allison Britt, Lea F. Surrey, Abhay Srinivasan, Arupa Ganguly, Maria Limmina, Dong Li, Suzanne P. MacFarland, Denise M. Adams, Sarah E. Sheppard   +10 more
wiley   +1 more source

An X‐ray beamline for utilizing intense, high‐energy undulator radiation

Journal of Synchrotron Radiation, Volume 32, Issue 5, Page 1201-1210, September 2025.
The design, development and performance of an X‐ray beamline for utilizing intense, high‐energy undulator radiation are presented.The design, development and performance of an X‐ray beamline for utilizing intense, high‐energy undulator radiation are presented.
Hirokatsu Yumoto, Takahisa Koyama, Hiroshi Yamazaki, Yasunori Senba, Yujiro Hayashi, Taito Osaka, Ichiro Inoue, Kenji Tamasaku, Shunji Goto, Makina Yabashi, Haruhiko Ohashi   +10 more
wiley   +1 more source

Fibronectin rescues aberrant phenotype of endothelial cells lacking either CCM1, CCM2 or CCM3.

, 2020
Loss-of-function variants in CCM1/KRIT1, CCM2, and CCM3/PDCD10 are associated with autosomal dominant cerebral cavernous malformations (CCMs). CRISPR/Cas9-mediated CCM3 inactivation in human endothelial cells (ECs) has been shown to induce profound ...
Strom, T.M., Rath, M., Much, C.D., Riedel, K., Kirchmaier, B.C., Dellweg, P.K.E., Pané-Farré, J., Spiegler, S., Felbor, U., Schwefel, K.   +9 more
core   +1 more source

Deep-Learning Uncovers certain CCM Isoforms as Transcription Factors

Frontiers in Bioscience-Landmark
Background: Cerebral Cavernous Malformations (CCMs) are brain vascular abnormalities associated with an increased risk of hemorrhagic strokes. Familial CCMs result from autosomal dominant inheritance involving three genes: KRIT1 (CCM1), MGC4607 (CCM2 ...
Jacob Croft, Liyuan Gao, Victor Sheng, Jun Zhang   +3 more
doaj   +1 more source

Cerebral Cavernous Malformations and Focal Drug‐Resistant Epilepsy: Behind a Quid Pro Quo of Lesion and Epileptogenic Networks

European Journal of Neurology, Volume 32, Issue 7, July 2025.
ABSTRACT Background Cerebral cavernous malformations (CCMs) contribute to focal drug‐resistant epilepsy (fDRE), with surgical outcomes varying due to an incomplete understanding of the interplay between CCM‐impacted regions and areas exhibiting ictal or interictal epileptogenicity.
Ionuț‐Flavius Bratu, Lucie de Clerck, Hélène Catenoix, Luc Valton, Jérôme Aupy, Anca Nica, Sylvain Rheims, Sandrine Aubert‐Conil, Jeanne Benoit, Julia Makhalova, Ophélie Galli, Samuel Medina Villalon, Fabrice Bartolomei   +12 more
wiley   +1 more source